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UniProtKB/Swiss-Prot Q03393: Variant p.Asn52Ser

6-pyruvoyl tetrahydrobiopterin synthase
Gene: PTS
Variant information

Variant position:  52
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Asparagine (N) to Serine (S) at position 52 (N52S, p.Asn52Ser).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and polar (N) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In HPABH4A; severe form.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  52
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  145
The length of the canonical sequence.

Location on the sequence:   SDEENLKLFGKCNNPNGHGH  N YKVVVTVHGEIDPATGMVMN
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         SDEENLKLFGKCNNPNGHGHNYKVVVTVHGEIDPATGMVMN

Mouse                         SDEENLRVFGKCNNPNGHGHNYKVVVTVHGEIDPVTGMVMN

Rat                           SAEENLKVFGKCNNPNGHGHNYKVVVTIHGEIDPVTGMVMN

Caenorhabditis elegans        SDAENKETFGKCNNSNGHGHNYVWKVKLRGEVDPTSGMVYD

Drosophila                    SDAENLEVFGKCNNFHGHGHNYTVEITVRGPIDRRTGMVLN

Slime mold                    SLEENKKIYGKC--INSHGHNYVLEVSIKGAVKEDIGMFMN

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

TypePositionsDescription
Chain 1 – 145 6-pyruvoyl tetrahydrobiopterin synthase
Active site 43 – 43 Proton acceptor
Binding site 49 – 49
Binding site 51 – 51
Beta strand 49 – 62


Literature citations

Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency.
Liu T.T.; Hsiao K.J.;
Hum. Genet. 98:313-316(1996)
Cited for: VARIANTS HPABH4A SER-52 AND SER-87;

Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.
Liu T.-T.; Hsiao K.-J.; Lu S.-F.; Wu S.-J.; Wu K.-F.; Chiang S.-H.; Liu X.-Q.; Chen R.-G.; Yu W.-M.;
Hum. Mutat. 11:76-83(1998)
Cited for: VARIANTS HPABH4A GLY-25; SER-52; MET-56; ASP-70; SER-87; ASN-96 AND MET-106;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.